선천성 눈운동행위상실증: 임상-영상의학적 분석

J Korean Neurol Assoc > Volume 28(1); 2010 > Article

Journal of the Korean Neurological Association 2010;28(1): 27-32.

Congenital Ocular Motor Apraxia: Clinico-Radiological Analyses

김지수, 오영미 황정민a 김재형b

서울대학교 의과대학 신경과학교실, 안과학교실a, 영상의학교실b, 분당서울대학교병원 신경과, 안과a, 영상의학과b

선천성 눈운동행위상실증: 임상-영상의학적 분석

Ji Soo Kim

Department of Neurology, Ophthalmologya, and Radiologyb, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Korea

Abstract

Background: Congenital ocular motor apraxia (COMA) is characterized by impaired voluntary saccades and abnormal head thrusts. However, mechanism of this disorder remains to be elucidated.
Methods: This study analyzed the eye movements and imaging findings in 16 patients with COMA, who had been recruited from 2003 to 2009 at the Neuro-Ophthalmology Clinic of Seoul National University Bundang Hospital.
Results: All the children showed impaired saccades and smooth pursuit in the horizontal direction. One of them also exhibited impaired vertical saccades and smooth pursuit. Eight children showed excessive blinks in association with an attempt to generate saccades. The typical head thrust usually developed around the age of eight months and had resolved by the age of 6-7 years. History of spasmus nutans was confirmed in seven children. Fourteen children showed cerebellar vermian hypoplasia, mostly in the inferior portion, and five of them also had dysgenesis of the corpus callosum. The severity of cerebellar vermian hypoplasia was correlated with developmental delay, as determined by the age of independent walking.
Conclusion: Cerebellar vermian hypoplasia is a frequent finding in COMA. Dysfunction of the oculomotor vermis may responsible for the impaired saccades and smooth pursuit in COMA. The occasional association of COMA with spasmus nutans indicates a common pathophysiology of these benign developmental disorders. KeyWords:Ocular motor apraxia, Cerebellum, Hypoplasia, Saccades, Smooth Pursuit